Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.
- NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_assertion description "[A novel missense mutation, G663A, in exon 5 of the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) was identified in a Japanese male with pyridoxine-responsive sideroblastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.
- NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_assertion evidence source_evidence_literature NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.
- NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_assertion SIO_000772 10577279 NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.
- NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_assertion wasDerivedFrom befree-20150227 NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.
- NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_assertion wasGeneratedBy ECO_0000203 NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.
- befree-20150227 importedOn "2015-02-27" NP233249.RA7tHbYWVn4r-s6dwvWusGysLNCWSP3jcocU1PfqkQNys130_provenance.